Are You Confident of the Diagnosis?

What you should be alert for in the history

Most children with infantile perianal protrusion are asymptomatic. Infantile perianal protrusion usually presents as a mass in the perianal area. The condition is usually discovered incidentally either by a physician during a routine physical examination or by the mother while she is changing the diaper of the child or bathing the child. Some children with perianal protrusion have a history of constipation or painful defecation.

Characteristic findings on physical examination

Infantile perianal pyramidal protrusion typically presents as an asymptomatic pyramidal soft tissue protrusion with a pink, rose red ,or purplish red surface, along the midline, usually anterior to the anus, with the major axis consistent with the median raphe (Figure 1). At times, the protrusion may occur posterior to the anus. The occurrence of concomitant anterior and posterior perianal protrusions has also been described. As such, the term “perianal” seems to be more appropriate than “perineal.”

Figure 1.

The lesion is usually solitary. The protrusion is often pyramidal in shape except in congenital cases. In congenital cases, the protrusion may have a leaf-like appearance. Occasionally, the protrusion may be hen's crest-, tongue-tip-, peanut-, or cigar-shaped. Some authors proposed “infantile perianal protrusion” as a simplified or more appropriate term as the shape of the protrusion might not always be pyramidal.

Expected results of diagnostic studies

The diagnosis is mainly clinical. No laboratory test is necessary. Histologic examination of the lesion is usually normal, as the protrusion is an outward projection of essentially normal, redundant skin. The histology of the lesion associated with lichen sclerosis is distinctive. Typically, the epidermis is atrophic with orthokeratotic hyperkeratosis. Other features include vacuolar degeneration of basal cells, edematous and sclerotic papillary dermis, and lymphohistiocytic infiltrates in the dermis.

Diagnosis confirmation

Differential diagnoses include perianal skin tag, genital wart, traumatic lesion resulting from sexual abuse, hemorrhoid, rectal prolapse, capillary hemangioma, and granulomatous lesion of inflammatory bowel disease. The clinical features of infantile perianal protrusion are so distinct that there should not be any difficulty in making the diagnosis. Thus familiarity of this condition is important, which allows a prompt diagnosis to be made.

Who is at Risk for Developing this Disease?

Infantile perianal protrusion is a somewhat newly recognized condition. It is most common in children under 1 year of age. The majority of affected children (>95%) are girls. Infantile perianal protrusion is more commonly seen in infants with a history of constipation, anal fissure, or vigorous wiping of the perianal area with diaper change.

Data on the epidemiology of this condition are very limited. In one study, 500 children (224 boys and 276 girls) who ranged from newborn to 11 years of age were checked for perineal nodules. None of the 224 boys had a perineal nodule. In contrast, 36 (13%) of 276 girls had perineal nodules. Among girls, the incidence was highest in the newborn infants (15.8%; 6 of 38 girls), compared to that for girls 2 months to 3 years of age (13.4%, 29 of 217 girls) and girls 4 to 11 years of age (4.8%; 1 of 21 girls).

What is the Cause of the Disease?

Etiology

Pathophysiology

The exact etiology and pathophysiology are not known. Currently, three types of infantile perianal protrusion have been recognized; namely, constitutional, functional, and lichen sclerosis et atrophicus-associated.

The constitutional type is presumably due to an inherent weakness in the median raphe or perineal region in females. Constitutional predisposition to infantile perianal protrusion is supported by the fact that the condition occurs predominately in females and the condition can sometimes be congenital or familial. When congenital, infantile perianal protrusion may be a remnant of a projected tip of the urogenital septum. The constitutional type is by far the most common type of infantile perianal protrusion.

The functional type may be secondary to constipation or mechanical irritation of the perianal area, such as vigorous wiping of the perianal area after defecation or urination. Infantile perianal protrusion can be a manifestation of anogenital lichen sclerosis et atrophicus. This is the least common type.

Systemic Implications and Complications

Infantile perianal protrusion can, at times, be a manifestation of anogenital lichen sclerosis et atrophicus. Therefore, the finding of infantile perianal protrusion should warrant a search for other clinical features of anogenital lichen sclerosis et atrophicus, such as dysuria, recurrent urinary tract infection, painful defecation, fecal soiling, itchiness or soreness in the anogenital area, anal fissure, and shiny, ivory-white, atrophic plaque in the anogenital region.

Infantile perianal protrusion might be of medicolegal significance if the lesion is mistaken for condyloma accuminata or a sign of trauma resulting from sexual abuse.

Treatment Options

Treatment is usually not necessary. Underlying conditions such as constipation should be treated. Anogenital lichen sclerosis et atrophicus, if present, should also be treated with either ultrapotent topical steroids such as clobetasol or topical immunomodulators such as tacrolimus or pimecrolimus. Surgical procedures and physical modalities are not applicable.

Optimal Therapeutic Approach for this Disease

Infantile perianal protrusion is usually self-limited, often lasting for a few months. Conservative follow-up is sufficient for most patients with infantile perianal protrusion. For children with constipation, remedies to loosen the stools may help to expedite resolution of the lesion. Affected children can be treated with liberal intake of fluid, increased intake of food with a high fiber content, and if necessary, a stool softener such as lactulose.

Anogenital lichen sclerosis et atrophicus, if present, can be treated with a topical corticosteroid or topical calcineurin inhibitor (tacrolimus, pimecrolimus).

Patient Management

Explain to the parents that infantile perianal protrusion is benign and that it will resolve on its own in a few months. Treatment is usually not necessary. The child should be assessed periodically (every 2 to 3 months) to ensure resolution of the lesion.

Tell the parents that the condition may be secondary to constipation or mechanical irritation of the perianal area, such as vigorous wiping after defecation or urination. Children with constipation can be treated with liberal intake of fluid and increased intake of fruit and vegetables. A stool softener such as lactulose can be used if necessary. Advise the parents to clean the child's perianal area gently.

Tell the parents that occasionally the condition may be secondary to lichen sclerosis et atrophicus in the anogenital area. If this is the case, the child may have to be treated with a topical corticosteroid or topical calcineurin inhibitor (tacrolimus, pimecrolimus). Judicial use of the topical corticosteroid or topical calcineurin inhibitor is relatively safe.

Unusual Clinical Scenarios to Consider in Patient Management

Remember that infantile perianal protrusion may be a manifestiaton of anogenital lichen sclerosis et atrophicus. Also remember not to confuse the lesion with condyloma accuminata or a sign of trauma resulting from sexual abuse.

What is the Evidence?

This is a classic paper on infantile perianal condition. Kayashima et al described 15 patients (14 girls and 1 boy) who had a pyramidal protrusion located in the midline anterior to the anus. The term “infantile perianal pyramidal protrusion” was coined by these authors. In previous reports of similar lesions, they were described as acrochordons or skinfolds.)

The authors reported two patients with concomitant anterior and posterior infantile perianal protrusions. The two case reports remind us that anterior and posterior infantile perianal protrusions may coexist. This paper also summarizes our current knowledge on this condition.)

This paper alerts readers that infantile perianal protrusion is, at least in some patients, a manifestation of anogenital lichen sclerosis et atropicus. The condition can precede other more characteristic manifestations of anogenital lichen sclerosis et atrophicus.)

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